Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays

Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly....

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Bibliographic Details
Published in:Clinical case reports 2023-02, Vol.11 (2), p.e6920-n/a
Main Authors: Coupe, Simone, Hertzog, Ashley, Foran, Carolyn, Tolun, Adviye Ayper, Suthern, Megan, Chung, Clara W. T., Ellaway, Carolyn
Format: Article
Language:English
Subjects:
7‐Dehydrocholesterol
Age
biochemical genetics
Case Report
Case reports
Cholesterol
diagnosis
Editing
Enzymes
Laboratories
Literature reviews
Medical screening
Metabolism
Mortality
Occupational therapy
Sleep
smith–lemli–opitz syndrome
Sterols
Ultrasonic imaging
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Description
Summary:Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly. Specific biochemical genetic testing (7‐dehydrocholesterol) analysis should be included in the initial work‐up for patients presenting with developmental delay and 2,3 toe syndactyly as it is faster and more cost effective than genomic testing.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6920